Young, Fit, and at Risk: The Hidden Threat of Heart Disease

Ninety percent of people with familial hypercholesterolemia are undiagnosed.
By Anna Medaris Miller | Staff Writer
Thirteen-year-old Michael Overstreet was dining at a small roadside restaurant in Nova Scotia during a family vacation when his dad collapsed and died from a heart attack. “It [was] very traumatic,” remembers Overstreet, now a 42-year-old technology consultant in Atlanta. “If I close my eyes, I can still see it.”
Overstreet’s father, who was 47 at the time, wasn’t the first man in the family to die suddenly from heart failure at a relatively young age. His physician grandfather died at age 49, and his uncle died at age 36. Overstreet never met either. “I always wondered [of my dad]: ‘Didn’t you see this coming?’” he says.
Fortunately, Overstreet and his siblings did. The foursome got their cholesterol tested soon after their father’s death and learned that their levels of low-density lipoprotein, or LDL (aka “bad”), cholesterol were exceptionally high, despite their youth and relatively healthy diets. It wasn’t until Overstreet was in his late 20s that the family learned their high cholesterol was due to a genetic disorder. And it wasn’t until Overstreet’s sister had a heart attack about 10 years later at age 41 that they learned the disorder had a name: familial hypercholesterolemia, or FH.
“Knowing that it has a name and knowing that there’s other people out there who are just like me,” Overstreet says, “provided a tremendous amount of relief.”   A Silent Killer
Familial hypercholesterolemia is an inherited disorder that causes very high LDL cholesterol (typically more than 190 mg/dL in adults; optimal levels are less than 100 mg/dL) in about 1 in 250 people globally, according to the Family Heart Foundation. The condition has a 50 percent likelihood of passing from parent to child; in the off chance that both parents have FH, children have a 25 percent chance of acquiring a far more serious, though far more rare, form of the condition called homozygous familial hypercholesterolemia, or HoFH.
FH is typically linked to a defect in LDL receptors that slashes in half the amount of “bad” cholesterol the body can absorb and doubles the amount of LDL cholesterol circulating in the bloodstream. As a result, dangerous levels of plaque build from the time of conception on, says Dr. Samuel Gidding, a member of the American College of Cardiology Prevention of Cardiovascular Disease Council and chief of pediatric cardiology at Nemours/Alfred I. duPont Hospital for Children in Wilmington, Delaware.
Left untreated, the condition causes a 50 percent increased risk of heart attack by age 50 in men and a 30 percent increased risk of heart attack in women by age 60, the Family Heart Foundation reports. “If you wait to have your heart attack to treat it, it’s way too late,” Gidding says.
But frequently, that’s what happens. In fact, about 90 percent of people with FH remain undiagnosed, according to the Family Heart Foundation. In one recent study in the New England Journal of Medicine, for instance, researchers screened over 10,000 children in London for high cholesterol and genetic mutations indicative of FH. For every 1,000 kids screened, they identified four children and four parents who had FH. Still, “virtually none” of the parents whose kids tested positive were aware of the disorder, says Dr. Paul Hopkins, a preventive medicine specialist and clinical lipidologist at the University of Utah, who was not involved in the study. “It was kind of unbelievable.”
Such lack of awareness is part of the reason why the American Academy of Pediatrics recommends that all children get tested for FH before age 11, and that kids with a family history of early heart attacks and heart disease get tested between 2 and 10 years old. Adults 20 years old and older who haven’t been diagnosed with cardiovascular disease, meanwhile, should get their cholesterol tested every four to six years, the American Heart Association recommends. Even the Centers for Disease Control and Prevention’s Office of Public Health Genomics has identified FH as one of three “tier 1 genomics applications,” or areas in which early interventions would save lives. “There’s just clear data that [early identification and management] would have an impact population-wide,” he says.
Life with FH
Michael Overstreet has run marathons all over the world, including in Tokyo, but without medication, his cholesterol is dangerously high. (ALL SPORTS COMMUNITY)
Michael Overstreet has run marathons all over the world, including in Tokyo, but without medication, his cholesterol is dangerously high. (ALL SPORTS COMMUNITY)
When Overstreet, who’s a volunteer for the Family Heart Foundation’s “Advocates for Awareness” program, tells people he has high cholesterol, they’re often taken aback. “I get second looks like, ‘Really? You?'” he says. After all, he’s run 24 marathons, doesn’t smoke and eats a healthy diet. “Our stereotypes [of people at high risk for heart attacks] are wrong,” Gidding says. “People don’t realize that a lot of cholesterol is inherited, specifically the more severe forms.”
But while lifestyle factors like limiting saturated fat intake are important in treating FH, they’re not enough to prevent early heart failure, says Hopkins, who also serves on the Family Heart Foundation’s scientific advisory board. “When you start at double the normal level, you can’t really fix it by diet alone,” he says.
Most people can fix it – or come close – with statins, a common group of cholesterol-lowering medications. “A lot of [patients] handle it very easily; they get on a statin med and they’re good – they’re at virtually normal levels, and most don’t see it as an illness even or that they’re sick,” Hopkins says. “It’s just something you have to handle, you need to be aware of it, and you do it.” Overstreet, who’s maintained decent cholesterol for close to 20 years with a daily statin, is one such patient. “[The medication] is not an intrusion in my life,” he says.
That’s not the case for everyone. Natalia Hester, a 27-year-old dance instructor in Colonial Heights, Virginia, doesn’t respond to statins because her receptors are misshapen. Other folks may find statins’ side effects – namely muscle aches – to be intolerable. And some people may not be able to lower their cholesterol enough even on high-dose statins.
But even for them, there are other options. Some patients may be prescribed a drug like ezetimibe, which blocks cholesterol absorption in the intestines. In severe cases like Hester’s, and more commonly among people with HoFH, patients may undergo lipid apheresis, a nonsurgical therapy that filters out LDL in the blood. Patients may also see a 50 to 70 percent reduction in LDL cholesterol from a new class of drugs called PCSK9 inhibitors, which Hester also injects every two weeks, although the treatment is considered a last resort. “Sometimes, it seems like [FH management] taken over my life,” Hester says, “but then I have to think to myself that it has also made me into the strong woman I am today.” The fact that such treatments are available and developing only underscores the importance of cholesterol readings and genetic screenings. “A lot of people don’t know that they have it. They think that family members dying is just a normal thing or that Uncle Bill didn’t eat that healthy, but it might not be that,” Overstreet says. Simply identifying FH and working with your doctor to treat it, he adds, “can add years to your life.”
View original article at U.S. & World Report News

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